LCATD
MCID: LCT022
MIFTS: 63

Lecithin:cholesterol Acyltransferase Deficiency (LCATD)

Categories: Blood diseases, Endocrine diseases, Eye diseases, Genetic diseases, Metabolic diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Lecithin:cholesterol Acyltransferase Deficiency

MalaCards integrated aliases for Lecithin:cholesterol Acyltransferase Deficiency:

Name: Lecithin:cholesterol Acyltransferase Deficiency 57 12 75 37
Norum Disease 57 12 76 59 75 29 13 6 15
Lcat Deficiency 57 76 59 55
Lecithin Cholesterol Acyltransferase Deficiency 76 55 44
Lecithin-Cholesterol Acyltransferase Deficiency 59 75
Lecithin Acyltransferase Deficiency 12 73
Familial Lcat Deficiency 59 75
Fld 59 75
Deficiency, Lecithin:cholesterol Acyltransferase 40
Lecithin-Cholesterol Acyltransferase 13
Complete Lcat Deficiency 59
Lcatd 75

Characteristics:

Orphanet epidemiological data:

59
lcat deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages;
familial lcat deficiency
Inheritance: Autosomal recessive,Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages; Age of death: normal life expectancy;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
lecithin:cholesterol acyltransferase deficiency:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 245900
Disease Ontology 12 DOID:1391
ICD10 33 E78.6
MeSH 44 D007863
NCIt 50 C84813
SNOMED-CT 68 49227001
ICD10 via Orphanet 34 E78.6
UMLS via Orphanet 74 C0023195
MedGen 42 C0023195
KEGG 37 H00158
UMLS 73 C0023195

Summaries for Lecithin:cholesterol Acyltransferase Deficiency

UniProtKB/Swiss-Prot : 75 Lecithin-cholesterol acyltransferase deficiency: A disorder of lipoprotein metabolism characterized by inadequate esterification of plasmatic cholesterol. Two clinical forms are recognized: complete LCAT deficiency and fish-eye disease. LCATD is generally referred to the complete form which is associated with absence of both alpha and beta LCAT activities resulting in esterification anomalies involving both HDL (alpha-LCAT activity) and LDL (beta-LCAT activity). It causes a typical triad of diffuse corneal opacities, target cell hemolytic anemia, and proteinuria with renal failure.

MalaCards based summary : Lecithin:cholesterol Acyltransferase Deficiency, also known as norum disease, is related to fish-eye disease and familial lcat deficiency. An important gene associated with Lecithin:cholesterol Acyltransferase Deficiency is LCAT (Lecithin-Cholesterol Acyltransferase), and among its related pathways/superpathways are Glycerophospholipid metabolism and Metabolism. The drugs Hydrocortisone acetate and Epinephrine have been mentioned in the context of this disorder. Affiliated tissues include eye, kidney and bone, and related phenotypes are hypertension and splenomegaly

Genetics Home Reference : 25 Complete LCAT deficiency is a disorder that primarily affects the eyes and kidneys.

OMIM : 57 Lecithin:cholesterol acyltransferase deficiency is a disorder of lipoprotein metabolism and causes a typical triad of diffuse corneal opacities, target cell hemolytic anemia, and proteinuria with renal failure. (245900)

Wikipedia : 76 Lecithin cholesterol acyltransferase deficiency (LCAT deficiency) is a disorder of lipoprotein... more...

Related Diseases for Lecithin:cholesterol Acyltransferase Deficiency

Diseases related to Lecithin:cholesterol Acyltransferase Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 116)
# Related Disease Score Top Affiliating Genes
1 fish-eye disease 34.1 APOA1 APOA2 LCAT
2 familial lcat deficiency 32.5 ALB APOA1 APOA2 APOE LCAT
3 schnyder corneal dystrophy 32.0 APOA2 APOB APOE
4 ischemic heart disease 30.4 APOA1 APOB APOE LPL
5 kwashiorkor 30.3 ALB LCAT
6 sea-blue histiocyte disease 30.3 APOB APOE LCAT LDLR
7 kidney disease 30.2 ALB APOC3 APOE LCAT LPA
8 tangier disease 30.2 APOA1 APOA2 APOB APOE CETP LCAT
9 diabetes mellitus 30.2 ALB APOA1 APOB LPA LPL
10 coronary artery anomaly 30.2 APOA1 APOB CETP LPA LPL
11 abetalipoproteinemia 30.2 APOA1 APOB APOE CETP LCAT LDLR
12 aortic atherosclerosis 30.2 APOE CETP LDLR LPA
13 hyperlipidemia, familial combined 30.1 APOA1 APOA2 APOB APOC2 APOC3 LPA
14 atherosclerosis susceptibility 30.0 APOA1 APOB APOE CETP LDLR LPA
15 defective apolipoprotein b-100 30.0 APOB APOE LCAT LDLR
16 arteries, anomalies of 29.7 ALB APOA1 APOB APOE CETP LDLR
17 hypoalphalipoproteinemia, primary 29.6 APOA1 APOA2 APOB APOC3 CETP LCAT
18 myocardial infarction 29.5 ALB APOA1 APOA2 APOB APOC3 APOE
19 heart disease 29.5 ALB APOA1 APOB APOC3 APOE LDLR
20 diabetes mellitus, noninsulin-dependent 29.4 ALB APOA1 APOA2 APOB APOC2 APOC3
21 coronary heart disease 1 29.3 APOA1 APOA2 APOB APOC3 APOE CETP
22 vascular disease 29.2 ALB APOA1 APOB APOE CETP LDLR
23 hypercholesterolemia, familial 28.9 APOA1 APOA2 APOB APOC2 APOC3 APOE
24 fatty liver disease 11.6
25 fazio-londe disease 11.1
26 liver disease 10.4
27 huntington disease-like 3 10.4
28 huntington disease-like 2 10.4
29 retinitis pigmentosa 10.4
30 hepatitis 10.4
31 apo a-i deficiency 10.2 APOA1 LCAT
32 xanthoma disseminatum 10.2 APOB APOE
33 biliary cirrhosis, primary, 1 10.2
34 bloom syndrome 10.2
35 respiratory distress syndrome in premature infants 10.2
36 alcoholic hepatitis 10.2
37 chronic kidney failure 10.2
38 glomerulonephritis 10.2
39 liver cirrhosis 10.2
40 newborn respiratory distress syndrome 10.2
41 primary biliary cirrhosis 10.2
42 nephrotic syndrome 10.2
43 hepatitis a 10.2
44 schistosomiasis 10.2
45 acute pancreatitis 10.2
46 membranoproliferative glomerulonephritis 10.2
47 histiocytosis 10.2
48 pancreatitis 10.2
49 peripheral nervous system disease 10.2
50 neuropathy 10.2

Graphical network of the top 20 diseases related to Lecithin:cholesterol Acyltransferase Deficiency:



Diseases related to Lecithin:cholesterol Acyltransferase Deficiency

Symptoms & Phenotypes for Lecithin:cholesterol Acyltransferase Deficiency

Symptoms via clinical synopsis from OMIM:

57
Laboratory Abnormalities:
proteinuria
increased plasma triglycerides
decreased plasma esterified cholesterol
decreased apoa-i and apoa-ii
decreased plasma hdl (<1/10 of normal levels)
more
Genitourinary Kidneys:
renal failure

Hematology:
hemolytic anemia
normochromic anemia

Head And Neck Eyes:
corneal opacities
corneal lipid deposits


Clinical features from OMIM:

245900

Human phenotypes related to Lecithin:cholesterol Acyltransferase Deficiency:

59 32 (show all 16)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertension 59 32 frequent (33%) Frequent (79-30%) HP:0000822
2 splenomegaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0001744
3 hepatomegaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0002240
4 corneal opacity 59 32 hallmark (90%) Very frequent (99-80%) HP:0007957
5 renal insufficiency 59 32 frequent (33%) Frequent (79-30%) HP:0000083
6 proteinuria 59 32 frequent (33%) Frequent (79-30%) HP:0000093
7 hypertriglyceridemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002155
8 hemolytic anemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001878
9 hematuria 59 32 frequent (33%) Frequent (79-30%) HP:0000790
10 visual loss 59 32 occasional (7.5%) Occasional (29-5%) HP:0000572
11 lymphadenopathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0002716
12 atherosclerosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002621
13 opacification of the corneal stroma 32 HP:0007759
14 foam cells 32 HP:0003651
15 normochromic anemia 32 HP:0001895
16 decreased hdl cholesterol concentration 32 HP:0003233

GenomeRNAi Phenotypes related to Lecithin:cholesterol Acyltransferase Deficiency according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased free cholesterol GR00340-A-2 9.56 APOA1 APOB APOC3 APOE CETP LDLR
2 Increased LDL uptake GR00340-A-1 8.92 APOA1 APOE LDLR LPL

MGI Mouse Phenotypes related to Lecithin:cholesterol Acyltransferase Deficiency:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.8 ALB APOA1 APOA2 APOB APOC2 APOE
2 endocrine/exocrine gland MP:0005379 9.76 ALB APOA1 APOE CSF1R IGBP1 LCAT
3 liver/biliary system MP:0005370 9.28 ALB APOA1 APOB APOE EPB41 LCAT

Drugs & Therapeutics for Lecithin:cholesterol Acyltransferase Deficiency

Drugs for Lecithin:cholesterol Acyltransferase Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 27)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Hydrocortisone acetate Approved, Vet_approved Phase 3 50-03-3
2
Epinephrine Approved, Vet_approved Phase 3 51-43-4 5816
3
Cosyntropin Approved Phase 3 16960-16-0 16129617
4
Racepinephrine Approved Phase 3 329-65-7 838
5
Hydrocortisone Approved, Vet_approved Phase 3 50-23-7 5754
6 Hydrocortisone 17-butyrate 21-propionate Phase 3
7 Anti-Asthmatic Agents Phase 3
8 Mydriatics Phase 3
9 Adrenergic beta-Agonists Phase 3
10 Adrenergic Agonists Phase 3
11 Epinephryl borate Phase 3
12 Neurotransmitter Agents Phase 3
13 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3
14 Respiratory System Agents Phase 3
15 Adrenergic alpha-Agonists Phase 3
16 Hormones Phase 3
17 Peripheral Nervous System Agents Phase 3
18 Hormone Antagonists Phase 3
19 Autonomic Agents Phase 3
20 Bronchodilator Agents Phase 3
21 Adrenergic Agents Phase 3
22 Sympathomimetics Phase 3
23 Cortisol succinate Phase 3
24 Vasoconstrictor Agents Phase 3
25 Lecithin Phase 1
26
Adenosine Approved, Investigational Not Applicable 58-61-7 60961
27 Pharmaceutical Solutions Not Applicable

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Is Adrenal Insufficiency Under-diagnosed in Hospitalized Cirrhosis Patients? Recruiting NCT03368066 Phase 3 Cosyntropin
2 Effect of ACP-501 on Safety, Tolerability, Pharmacokinetics and Pharmacodynamics in Subjects With Coronary Artery Disease Completed NCT01554800 Phase 1 ACP-501
3 Mendelian Reverse Cholesterol Transport Study Suspended NCT01782027 Not Applicable 3H-cholesterol bound to albumin

Search NIH Clinical Center for Lecithin:cholesterol Acyltransferase Deficiency

Cochrane evidence based reviews: lecithin cholesterol acyltransferase deficiency

Genetic Tests for Lecithin:cholesterol Acyltransferase Deficiency

Genetic tests related to Lecithin:cholesterol Acyltransferase Deficiency:

# Genetic test Affiliating Genes
1 Norum Disease 29 LCAT

Anatomical Context for Lecithin:cholesterol Acyltransferase Deficiency

MalaCards organs/tissues related to Lecithin:cholesterol Acyltransferase Deficiency:

41
Eye, Kidney, Bone, Bone Marrow, Liver, Heart

Publications for Lecithin:cholesterol Acyltransferase Deficiency

Articles related to Lecithin:cholesterol Acyltransferase Deficiency:

(show top 50) (show all 107)
# Title Authors Year
1
Complete and Partial Lecithin:Cholesterol Acyltransferase Deficiency Is Differentially Associated With Atherosclerosis. ( 29748187 )
2018
2
Lp8 is potentially associated with partial lecithin:cholesterol acyltransferase deficiency in a patient with primary biliary cirrhosis. ( 30055975 )
2018
3
A case of acquired lecithin:cholesterol acyltransferase deficiency with sarcoidosis that remitted spontaneously. ( 28508975 )
2016
4
Familial lecithin:cholesterol acyltransferase deficiency: First-in-human treatment with enzyme replacement. ( 27055967 )
2016
5
A review on lecithin:cholesterol acyltransferase deficiency. ( 25172171 )
2015
6
Acquired lecithin:cholesterol acyltransferase deficiency as a major factor in lowering plasma HDL levels in chronic kidney disease. ( 25039266 )
2015
7
Lipoprotein subfractions highly associated with renal damage in familial lecithin:cholesterol acyltransferase deficiency. ( 24876348 )
2014
8
Genetic lecithin:cholesterol acyltransferase deficiency and cardiovascular disease. ( 22189200 )
2012
9
Lecithin:cholesterol acyltransferase deficiency protects against cholesterol-induced hepatic endoplasmic reticulum stress in mice. ( 22500017 )
2012
10
Novel missense variants in LCAT and APOB genes in an Italian kindred with familial lecithin:cholesterol acyltransferase deficiency and hypobetalipoproteinemia. ( 22658148 )
2012
11
In vivo imaging of the cornea in a patient with lecithin-cholesterol acyltransferase deficiency. ( 20628294 )
2010
12
Human lecithin:cholesterol acyltransferase deficiency: in vivo kinetics of low-density lipoprotein and lipoprotein-X. ( 16543491 )
2006
13
Point mutations in apolipoprotein A-I mimic the phenotype observed in patients with classical lecithin:cholesterol acyltransferase deficiency. ( 16245952 )
2005
14
The molecular basis of lecithin:cholesterol acyltransferase deficiency syndromes: a comprehensive study of molecular and biochemical findings in 13 unrelated Italian families. ( 15994445 )
2005
15
Lecithin:cholesterol acyltransferase deficiency increases atherosclerosis in the low density lipoprotein receptor and apolipoprotein E knockout mice. ( 11719520 )
2002
16
Acquired lecithin-cholesterol acyltransferase deficiency in nephrotic syndrome. ( 11292624 )
2001
17
Possible induction of renal dysfunction in patients with lecithin:cholesterol acyltransferase deficiency by oxidized phosphatidylcholine in glomeruli. ( 10073988 )
1999
18
Familial Lecithin:cholesterol acyltransferase deficiency with renal failure in two siblings. First case report from India. ( 9884427 )
1999
19
Transmission of two novel mutations in a pedigree with familial lecithin:cholesterol acyltransferase deficiency: structure-function relationships and studies in a compound heterozygous proband. ( 9741700 )
1998
20
Familial lecithin:cholesterol acyltransferase deficiency: molecular analysis of a compound heterozygote: LCAT (Arg147 --> Trp) and LCAT (Tyr171 --> Stop). ( 9180249 )
1997
21
Functional lecithin:cholesterol acyltransferase deficiency and high density lipoprotein deficiency in transgenic mice overexpressing human apolipoprotein A-II. ( 8636092 )
1996
22
Two different allelic mutations in a Finnish family with lecithin:cholesterol acyltransferase deficiency. ( 7749857 )
1995
23
Characterization of subspecies of lipoprotein containing apolipoprotein A-I in heterozygotes for familial lecithin:cholesterol acyltransferase deficiency. ( 7605383 )
1995
24
Characterization of subspecies of apolipoprotein A-I-containing lipoprotein in homozygotes for familial lecithin:cholesterol acyltransferase deficiency. ( 8018670 )
1994
25
Lecithin-cholesterol acyltransferase deficiency: first report of case in a United States citizen. ( 8027002 )
1994
26
Lecithin:cholesterol acyltransferase deficiency: identification of a causative gene mutation and a co-inherited protein polymorphism. ( 8318557 )
1993
27
Familial lecithin:cholesterol acyltransferase deficiency: further resolution of lipoprotein particle heterogeneity in the low density interval. ( 8141844 )
1993
28
The genetic defect of the original Norwegian lecithin:cholesterol acyltransferase deficiency families. ( 1516702 )
1992
29
Successful renal transplantation in a patient with familial lecithin:cholesterol acyltransferase deficiency. ( 1514967 )
1992
30
Differential phenotypic expression by three mutant alleles in familial lecithin:cholesterol acyltransferase deficiency. ( 1681161 )
1991
31
Apolipoprotein AIMilano. Partial lecithin:cholesterol acyltransferase deficiency due to low levels of a functional enzyme. ( 2106917 )
1990
32
Plasma lipoprotein abnormalities in heterozygotes for familial lecithin:cholesterol acyltransferase deficiency. ( 3121980 )
1988
33
Lecithin:cholesterol acyltransferase deficiency. ( 3203243 )
1988
34
A study of the structure of the gene for lecithin: cholesterol acyltransferase in four unrelated individuals with familial lecithin: cholesterol acyltransferase deficiency. ( 3338256 )
1988
35
Ophthalmic observations in lecithin cholesterol acyltransferase deficiency. ( 3341979 )
1988
36
Recognizing familial lecithin cholesterol acyltransferase deficiency at the slit lamp. ( 3415535 )
1988
37
Alpha-lecithin:cholesterol acyltransferase deficiency. Lack of both phospholipase A2 and acyltransferase activities characteristic of high density lipoprotein lecithin:cholesterol acyltransferase in fish eye disease. ( 3630775 )
1987
38
Hereditary lecithin-cholesterol acyltransferase deficiency. Case report of a German patient. ( 3661502 )
1987
39
Study of the components of reverse cholesterol transport in lecithin:cholesterol acyltransferase deficiency. ( 3674887 )
1987
40
The basic apolipoprotein A-I in the patients with familial lecithin:cholesterol acyltransferase deficiency. ( 3088715 )
1986
41
Nephropathy of familial lecithin-cholesterol acyltransferase deficiency: report of a case. ( 3510535 )
1986
42
Renal lesions in familial lecithin-cholesterol acyltransferase deficiency. Ultrastructural heterogeneity of glomerular changes. ( 3963061 )
1986
43
Prematurity and lecithin-cholesterol acyltransferase deficiency in newborn infants. ( 3969314 )
1985
44
Familial lecithin:cholesterol acyltransferase deficiency. Biochemistry of the cornea. ( 3989388 )
1985
45
Defective enzyme causes lecithin-cholesterol acyltransferase deficiency in a Japanese kindred. ( 4005283 )
1985
46
Self-adaptive modification of red-cell membrane lipids in lecithin: cholesterol acyltransferase deficiency. Lipid analysis and spin labeling. ( 6320877 )
1984
47
Effects of plasma infusion on plasma lipids, apoproteins and plasma enzyme activities in familial lecithin: cholesterol acyltransferase deficiency. ( 6428900 )
1984
48
Decreased sodium influx and abnormal red cell membrane lipids in a patient with familial plasma lecithin: cholesterol acyltransferase deficiency. ( 6695915 )
1984
49
A study of the small spherical high density lipoproteins of patients afflicted with familial lecithin: cholesterol acyltransferase deficiency. ( 6726080 )
1984
50
Demonstration of intact intracellular cholesterol esterification and normal low-density lipoprotein pathway in fibroblasts from a patient with lecithin:cholesterol acyltransferase deficiency. ( 6743678 )
1984

Variations for Lecithin:cholesterol Acyltransferase Deficiency

UniProtKB/Swiss-Prot genetic disease variations for Lecithin:cholesterol Acyltransferase Deficiency:

75 (show all 22)
# Symbol AA change Variation ID SNP ID
1 LCAT p.Gly54Ser VAR_004253
2 LCAT p.Gly57Arg VAR_004254
3 LCAT p.Ala117Thr VAR_004255 rs28940886
4 LCAT p.Arg159Trp VAR_004257 rs28940887
5 LCAT p.Arg164His VAR_004258 rs769485083
6 LCAT p.Arg171Trp VAR_004259
7 LCAT p.Tyr180Asn VAR_004260 rs749740660
8 LCAT p.Leu233Pro VAR_004262 rs28942087
9 LCAT p.Asn252Lys VAR_004263 rs121908049
10 LCAT p.Met317Ile VAR_004265 rs121908048
11 LCAT p.Thr345Met VAR_004266 rs28940888
12 LCAT p.Asn29Ile VAR_039020
13 LCAT p.Thr37Met VAR_039022 rs971887742
14 LCAT p.Arg164Cys VAR_039028
15 LCAT p.Ser205Asn VAR_039030
16 LCAT p.Lys242Asn VAR_039031
17 LCAT p.Arg268His VAR_039032 rs780824776
18 LCAT p.Thr298Ala VAR_039033
19 LCAT p.Thr298Ile VAR_039034
20 LCAT p.Pro331Ser VAR_039035
21 LCAT p.Val333Met VAR_039036 rs776035233
22 LCAT p.Phe406Val VAR_039038

ClinVar genetic disease variations for Lecithin:cholesterol Acyltransferase Deficiency:

6 (show all 39)
# Gene Variation Type Significance SNP ID Assembly Location
1 LCAT NM_000229.1(LCAT): c.508T> C (p.Trp170Arg) single nucleotide variant Pathogenic rs267607211 GRCh37 Chromosome 16, 67976589: 67976589
2 LCAT NM_000229.1(LCAT): c.508T> C (p.Trp170Arg) single nucleotide variant Pathogenic rs267607211 GRCh38 Chromosome 16, 67942686: 67942686
3 LCAT NM_000229.1(LCAT): c.951G> A (p.Met317Ile) single nucleotide variant Pathogenic rs121908048 GRCh37 Chromosome 16, 67974179: 67974179
4 LCAT NM_000229.1(LCAT): c.951G> A (p.Met317Ile) single nucleotide variant Pathogenic rs121908048 GRCh38 Chromosome 16, 67940276: 67940276
5 LCAT NM_000229.1(LCAT): c.492_493insGGC (p.Arg164_Ala165insGly) insertion Pathogenic rs794726662 GRCh38 Chromosome 16, 67942701: 67942702
6 LCAT NM_000229.1(LCAT): c.492_493insGGC (p.Arg164_Ala165insGly) insertion Pathogenic rs794726662 GRCh37 Chromosome 16, 67976604: 67976605
7 LCAT NM_000229.1(LCAT): c.756C> A (p.Asn252Lys) single nucleotide variant Pathogenic rs121908049 GRCh37 Chromosome 16, 67974374: 67974374
8 LCAT NM_000229.1(LCAT): c.756C> A (p.Asn252Lys) single nucleotide variant Pathogenic rs121908049 GRCh38 Chromosome 16, 67940471: 67940471
9 LCAT LCAT, 1-BP INS, EX1 insertion Pathogenic
10 LCAT NM_000229.1(LCAT): c.827T> A (p.Met276Lys) single nucleotide variant Pathogenic rs121908054 GRCh37 Chromosome 16, 67974303: 67974303
11 LCAT NM_000229.1(LCAT): c.827T> A (p.Met276Lys) single nucleotide variant Pathogenic rs121908054 GRCh38 Chromosome 16, 67940400: 67940400
12 LCAT NM_000229.1(LCAT): c.698T> C (p.Leu233Pro) single nucleotide variant Pathogenic rs28942087 GRCh37 Chromosome 16, 67976316: 67976316
13 LCAT NM_000229.1(LCAT): c.698T> C (p.Leu233Pro) single nucleotide variant Pathogenic rs28942087 GRCh38 Chromosome 16, 67942413: 67942413
14 LCAT NM_000229.1(LCAT): c.349G> A (p.Ala117Thr) single nucleotide variant no interpretation for the single variant rs28940886 GRCh37 Chromosome 16, 67976842: 67976842
15 LCAT NM_000229.1(LCAT): c.349G> A (p.Ala117Thr) single nucleotide variant no interpretation for the single variant rs28940886 GRCh38 Chromosome 16, 67942939: 67942939
16 LCAT NM_000229.1(LCAT): c.475C> T (p.Arg159Trp) single nucleotide variant Pathogenic rs28940887 GRCh37 Chromosome 16, 67976622: 67976622
17 LCAT NM_000229.1(LCAT): c.475C> T (p.Arg159Trp) single nucleotide variant Pathogenic rs28940887 GRCh38 Chromosome 16, 67942719: 67942719
18 LCAT NM_000229.1(LCAT): c.1197dupA (p.Gln400Thrfs) duplication Pathogenic rs794726663 GRCh38 Chromosome 16, 67940030: 67940030
19 LCAT NM_000229.1(LCAT): c.1197dupA (p.Gln400Thrfs) duplication Pathogenic rs794726663 GRCh37 Chromosome 16, 67973933: 67973933
20 LCAT NM_000229.1(LCAT): c.1034C> T (p.Thr345Met) single nucleotide variant Pathogenic rs28940888 GRCh37 Chromosome 16, 67974096: 67974096
21 LCAT NM_000229.1(LCAT): c.1034C> T (p.Thr345Met) single nucleotide variant Pathogenic rs28940888 GRCh38 Chromosome 16, 67940193: 67940193
22 LCAT NM_000229.1(LCAT): c.321C> A (p.Tyr107Ter) single nucleotide variant Pathogenic rs121908055 GRCh37 Chromosome 16, 67976870: 67976870
23 LCAT NM_000229.1(LCAT): c.321C> A (p.Tyr107Ter) single nucleotide variant Pathogenic rs121908055 GRCh38 Chromosome 16, 67942967: 67942967
24 LCAT NM_000229.1(LCAT): c.544C> T (p.Arg182Cys) single nucleotide variant no interpretation for the single variant rs387906300 GRCh37 Chromosome 16, 67976470: 67976470
25 LCAT NM_000229.1(LCAT): c.544C> T (p.Arg182Cys) single nucleotide variant no interpretation for the single variant rs387906300 GRCh38 Chromosome 16, 67942567: 67942567
26 LCAT NM_000229.1(LCAT): c.1039C> T (p.Arg347Cys) single nucleotide variant Uncertain significance rs202017590 GRCh38 Chromosome 16, 67940188: 67940188
27 LCAT NM_000229.1(LCAT): c.1039C> T (p.Arg347Cys) single nucleotide variant Uncertain significance rs202017590 GRCh37 Chromosome 16, 67974091: 67974091
28 LCAT NM_000229.1(LCAT): c.159C> T (p.Pro53=) single nucleotide variant Uncertain significance rs556480808 GRCh37 Chromosome 16, 67977111: 67977111
29 LCAT NM_000229.1(LCAT): c.159C> T (p.Pro53=) single nucleotide variant Uncertain significance rs556480808 GRCh38 Chromosome 16, 67943208: 67943208
30 LCAT NM_000229.1(LCAT): c.534G> T (p.Glu178Asp) single nucleotide variant Uncertain significance rs886052220 GRCh38 Chromosome 16, 67942577: 67942577
31 LCAT NM_000229.1(LCAT): c.534G> T (p.Glu178Asp) single nucleotide variant Uncertain significance rs886052220 GRCh37 Chromosome 16, 67976480: 67976480
32 LCAT NM_000229.1(LCAT): c.*12T> C single nucleotide variant Uncertain significance rs886052219 GRCh38 Chromosome 16, 67939892: 67939892
33 LCAT NM_000229.1(LCAT): c.*12T> C single nucleotide variant Uncertain significance rs886052219 GRCh37 Chromosome 16, 67973795: 67973795
34 LCAT NM_000229.1(LCAT): c.748+13C> G single nucleotide variant Uncertain significance rs750086555 GRCh38 Chromosome 16, 67942350: 67942350
35 LCAT NM_000229.1(LCAT): c.748+13C> G single nucleotide variant Uncertain significance rs750086555 GRCh37 Chromosome 16, 67976253: 67976253
36 LCAT NM_000229.1(LCAT): c.1177C> T (p.Leu393=) single nucleotide variant Likely benign rs5923 GRCh38 Chromosome 16, 67940050: 67940050
37 LCAT NM_000229.1(LCAT): c.1177C> T (p.Leu393=) single nucleotide variant Likely benign rs5923 GRCh37 Chromosome 16, 67973953: 67973953
38 LCAT NM_000229.1(LCAT): c.981A> C (p.Gly327=) single nucleotide variant Uncertain significance rs139453193 GRCh38 Chromosome 16, 67940246: 67940246
39 LCAT NM_000229.1(LCAT): c.981A> C (p.Gly327=) single nucleotide variant Uncertain significance rs139453193 GRCh37 Chromosome 16, 67974149: 67974149

Expression for Lecithin:cholesterol Acyltransferase Deficiency

Search GEO for disease gene expression data for Lecithin:cholesterol Acyltransferase Deficiency.

Pathways for Lecithin:cholesterol Acyltransferase Deficiency

Pathways related to Lecithin:cholesterol Acyltransferase Deficiency according to KEGG:

37
# Name Kegg Source Accession
1 Glycerophospholipid metabolism hsa00564

Pathways related to Lecithin:cholesterol Acyltransferase Deficiency according to GeneCards Suite gene sharing:

(show all 13)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.81 ALB APOA1 APOA2 APOB APOC2 APOC3
2
Show member pathways
12.47 APOA1 APOA2 APOB APOC2 APOC3 APOE
3
Show member pathways
12.3 ALB APOA1 APOA2 APOB APOC2 APOC3
4
Show member pathways
12.14 ALB APOA1 APOB APOE LDLR
5
Show member pathways
12.09 APOA1 APOA2 APOB APOC2 APOC3 APOE
6 11.79 ALB APOA1 APOE
7
Show member pathways
11.75 ALB APOA1 APOB APOE
8 11.49 APOA1 APOA2 APOC3 LPL
9
Show member pathways
11.44 APOA1 APOA2 APOB APOC2 APOC3 APOE
10
Show member pathways
11.3 APOA1 APOB NPC1L1
11 11.05 APOA1 APOA2 APOC3
12 10.9 APOA1 APOB
13 10.77 APOA1 APOA2

GO Terms for Lecithin:cholesterol Acyltransferase Deficiency

Cellular components related to Lecithin:cholesterol Acyltransferase Deficiency according to GeneCards Suite gene sharing:

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 early endosome GO:0005769 9.95 APOA1 APOA2 APOB APOC2 APOC3 APOE
2 endoplasmic reticulum lumen GO:0005788 9.89 ALB APOA1 APOA2 APOB APOE
3 blood microparticle GO:0072562 9.84 ALB APOA1 APOA2 APOE
4 high-density lipoprotein particle GO:0034364 9.73 APOA1 APOA2 APOC2 APOE CETP LCAT
5 low-density lipoprotein particle GO:0034362 9.72 APOA1 APOB APOC2 APOE LDLR
6 clathrin-coated endocytic vesicle membrane GO:0030669 9.69 APOB APOE LDLR
7 spherical high-density lipoprotein particle GO:0034366 9.67 APOA1 APOA2 APOC2 APOC3
8 endocytic vesicle lumen GO:0071682 9.65 APOA1 APOB APOE
9 intermediate-density lipoprotein particle GO:0034363 9.55 APOA1 APOB APOC2 APOC3 APOE
10 discoidal high-density lipoprotein particle GO:0034365 9.52 APOA1 APOE
11 chylomicron GO:0042627 9.5 APOA1 APOA2 APOB APOC2 APOC3 APOE
12 very-low-density lipoprotein particle GO:0034361 9.17 APOA1 APOA2 APOB APOC2 APOC3 APOE
13 extracellular region GO:0005576 10.21 ALB APOA1 APOA2 APOB APOC2 APOC3
14 extracellular space GO:0005615 10.16 ALB APOA1 APOA2 APOB APOC2 APOC3
15 extracellular exosome GO:0070062 10.15 ALB APOA1 APOA2 APOB APOC3 APOE

Biological processes related to Lecithin:cholesterol Acyltransferase Deficiency according to GeneCards Suite gene sharing:

(show top 50) (show all 67)
# Name GO ID Score Top Affiliating Genes
1 triglyceride catabolic process GO:0019433 9.99 APOA1 APOB APOC3 APOE LPL
2 cholesterol efflux GO:0033344 9.99 APOA1 APOA2 APOB APOC2 APOC3 APOE
3 low-density lipoprotein particle remodeling GO:0034374 9.97 APOA2 APOB APOE CETP LPA
4 high-density lipoprotein particle remodeling GO:0034375 9.97 ALB APOA1 APOA2 APOC2 APOC3 APOE
5 lipid catabolic process GO:0016042 9.96 APOB APOC2 APOC3 LPL
6 phospholipid efflux GO:0033700 9.96 APOA1 APOA2 APOC2 APOC3 APOE
7 high-density lipoprotein particle clearance GO:0034384 9.95 APOA1 APOA2 APOC2 APOE LDLR
8 chylomicron assembly GO:0034378 9.93 APOA1 APOA2 APOB APOC2 APOC3 APOE
9 chylomicron remnant clearance GO:0034382 9.92 APOB APOC2 APOC3 APOE LDLR
10 positive regulation of catalytic activity GO:0043085 9.9 APOA2 APOC2 APOE
11 lipoprotein biosynthetic process GO:0042158 9.9 APOA1 APOB APOE LCAT
12 phospholipid metabolic process GO:0006644 9.89 APOA1 LCAT LPL
13 phospholipid transport GO:0015914 9.87 APOA1 CETP LDLR
14 cholesterol transport GO:0030301 9.87 APOA1 APOA2 APOB CETP LCAT LDLR
15 cholesterol biosynthetic process GO:0006695 9.85 APOA1 APOE NPC1L1
16 phosphatidylcholine biosynthetic process GO:0006656 9.83 APOA1 APOA2 LCAT
17 high-density lipoprotein particle assembly GO:0034380 9.81 APOA1 APOA2 APOE
18 positive regulation of cholesterol esterification GO:0010873 9.8 APOA1 APOA2 APOE
19 regulation of Cdc42 protein signal transduction GO:0032489 9.8 APOA1 APOC3 APOE
20 chylomicron remodeling GO:0034371 9.8 APOA1 APOA2 APOB APOC2 APOC3 APOE
21 lipoprotein catabolic process GO:0042159 9.79 APOB APOE LDLR
22 negative regulation of very-low-density lipoprotein particle remodeling GO:0010903 9.79 APOA1 APOA2 APOC3
23 positive regulation of endocytosis GO:0045807 9.74 APOE LDLR
24 lipoprotein transport GO:0042953 9.74 APOB APOC2
25 low-density lipoprotein particle clearance GO:0034383 9.74 APOB LDLR
26 artery morphogenesis GO:0048844 9.73 APOB APOE
27 negative regulation of lipid catabolic process GO:0050995 9.73 APOA2 APOC3
28 positive regulation of lipid biosynthetic process GO:0046889 9.73 APOA1 APOE
29 positive regulation of macrophage derived foam cell differentiation GO:0010744 9.73 APOB LPL
30 regulation of cholesterol metabolic process GO:0090181 9.73 APOE LDLR
31 phosphatidylcholine metabolic process GO:0046470 9.73 CETP LCAT
32 regulation of protein metabolic process GO:0051246 9.72 APOE LDLR
33 positive regulation of chemokine secretion GO:0090197 9.72 CSF1R LPL
34 very-low-density lipoprotein particle assembly GO:0034379 9.72 APOB APOC3
35 intestinal cholesterol absorption GO:0030299 9.72 LDLR NPC1L1
36 phospholipid homeostasis GO:0055091 9.71 APOA1 CETP
37 positive regulation of cholesterol storage GO:0010886 9.71 APOB LPL
38 regulation of cholesterol transport GO:0032374 9.71 APOA1 APOE
39 cholesterol import GO:0070508 9.71 APOA1 LDLR
40 negative regulation of cytokine secretion involved in immune response GO:0002740 9.7 APOA1 APOA2
41 negative regulation of receptor-mediated endocytosis GO:0048261 9.7 APOC2 APOC3
42 peptidyl-methionine modification GO:0018206 9.7 APOA1 APOA2
43 very-low-density lipoprotein particle clearance GO:0034447 9.7 APOB APOE
44 lipoprotein metabolic process GO:0042157 9.7 APOA1 APOA2 APOB APOC3 APOE LDLR
45 regulation of intestinal cholesterol absorption GO:0030300 9.69 APOA1 APOA2
46 negative regulation of cholesterol transport GO:0032375 9.69 APOA2 APOC2
47 negative regulation of lipase activity GO:0060192 9.68 APOA1 APOA2
48 negative regulation of lipid metabolic process GO:0045833 9.68 APOC2 APOC3
49 negative regulation of very-low-density lipoprotein particle clearance GO:0010916 9.68 APOC2 APOC3
50 protein oxidation GO:0018158 9.68 APOA1 APOA2

Molecular functions related to Lecithin:cholesterol Acyltransferase Deficiency according to GeneCards Suite gene sharing:

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 phospholipid binding GO:0005543 9.83 APOA1 APOA2 APOB APOC3 APOE
2 heparin binding GO:0008201 9.8 APOB APOE LPA LPL
3 lipid binding GO:0008289 9.76 ALB APOA1 APOA2 APOB APOC2 APOC3
4 cholesterol binding GO:0015485 9.72 APOA1 APOA2 APOC3 APOE CETP
5 amyloid-beta binding GO:0001540 9.7 APOA1 APOE LDLR
6 lipid transporter activity GO:0005319 9.65 APOA1 APOA2 APOB APOE CETP
7 phosphatidylcholine-sterol O-acyltransferase activator activity GO:0060228 9.58 APOA1 APOA2 APOE
8 low-density lipoprotein particle receptor binding GO:0050750 9.57 APOB APOE
9 phospholipid transporter activity GO:0005548 9.56 APOA1 CETP
10 apolipoprotein binding GO:0034185 9.55 LPA LPL
11 high-density lipoprotein particle binding GO:0008035 9.54 APOA1 APOA2
12 high-density lipoprotein particle receptor binding GO:0070653 9.54 APOA1 APOA2 APOC3
13 lipoprotein particle binding GO:0071813 9.51 APOA1 APOE
14 apolipoprotein receptor binding GO:0034190 9.48 APOA1 APOA2
15 triglyceride binding GO:0017129 9.46 CETP LPL
16 lipase inhibitor activity GO:0055102 9.26 APOA1 APOA2 APOC2 APOC3
17 cholesterol transporter activity GO:0017127 9.02 APOA1 APOA2 APOB APOE CETP

Sources for Lecithin:cholesterol Acyltransferase Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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